Variant (rsID / SNP)

rs138313759

rs138313759 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CPA6. Location: chromosome 8, position 68,346,339. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

CPA6Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 8:68346339
Cytoband: 8q13.2
HGVS: NM_020361.5(CPA6):c.975A>G (p.Ala325=)
Allele change: Silent

Associated conditions / phenotypes

Familial temporal lobe epilepsy 5|Febrile seizures, familial, 11

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.